ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.3443A>G (p.Gln1148Arg) (rs200808363)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000222474 SCV000277396 uncertain significance Hereditary cancer-predisposing syndrome 2019-03-28 criteria provided, single submitter clinical testing Insufficient or conflicting evidence
Invitae RCV000467374 SCV000549756 uncertain significance Hereditary breast and ovarian cancer syndrome 2018-11-26 criteria provided, single submitter clinical testing This sequence change replaces glutamine with arginine at codon 1148 of the BRCA2 protein (p.Gln1148Arg). The glutamine residue is weakly conserved and there is a small physicochemical difference between glutamine and arginine. This variant is present in population databases (rs200808363, ExAC <0.01%). This variant has been reported in an individual affected with breast cancer (PMID: 18060494). This variant is also known as c.3671A>G in the literature. ClinVar contains an entry for this variant (Variation ID: 37841). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Color RCV000222474 SCV000688804 uncertain significance Hereditary cancer-predisposing syndrome 2018-10-03 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031422 SCV000054027 uncertain significance Breast-ovarian cancer, familial 2 2012-04-05 no assertion criteria provided clinical testing

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